Gynecology 12th Edition by Alan H. DeCherney - Ch. 1-60,
9780071833905, with Rationales
A major congenital anomaly is found in ___ of every 100 births. - ANSWER: 3
(An additional 10-15% births are complicated by minor birth defects.)
What are the serum biochemistry methods of screening? (blood work) - ANSWER: -bHCG and PAPP-A
in the 1st trimester
-Quad screen in 2nd tri
What is the PAPP-A blood test specific to? - ANSWER: Down's Syndrome
What is the 1st trimester screening ultrasound? - ANSWER: Nuchal translucency measurement
What should the nuchal translucency measurement be in the 1st tri? - ANSWER: <3mm
What is the 2nd trimester screening ultrasounds? - ANSWER: -Fetal anatomy survey
-Level 2 or 3 US
What needs to happen frequently if an anomaly is found? - ANSWER: -Frequent chemistries and
ultrasounds, BPP and NST
-Special arrangements may need to be made for Postnatal care, Delivery, Surgery
If an anomaly is suspected, particularly if it is suspected to be chromosomal/inherited in origin, a
sample of fetal cells can give a definitive diagnosis. What is this called? - ANSWER: Karyotype Analysis
-allows for examination of fetal chromosomes to detect chromosomally linked disorders and
anomalies
3 Methods of Diagnosis: - ANSWER: -Chorionic Villus Sampling
-Amniocentesis
-Cordocentesis
What is Chorionic villus sampling? - ANSWER: An US directed biopsy of the placenta or chorionic villi
(chorion frondosum - the active trophoblastic tissue that becomes the placenta)
Because the chorionic villi are fetal in origin, _____________ abnormalities may be detected in the
cells. - ANSWER: chromosomal
What should you all asses with US before the CVS? - ANSWER: -Uterine/cervical lie to determine best
route for catheter
-Asses fetus in terms of life, morphology and age
-Identify uterine masses or other problems that may interfere
How does a Trans-cervical CVS work? - ANSWER: -Performed with the patient in stirrups
-Guiding stylet is introduced under ultrasound guidance to check uterine and placental position
-Catheter is then introduced and directed into placental tissue
-Cells are aspirated and sent for analysis
What is the TA CVS-Procedure? - ANSWER: -Skin prepped with chloraprep or iodine
-Transducer in sterile cover
-Sterile gel on probe
, -Scan to confirm suitable pocket of fluid
-Procedure done under continuous ultrasound observation, so needle tip is seen
-Cells are aspirated
What can all be detected in chorionic villi? - ANSWER: -Chromosomal abnormalities
-Biochemical disorders
-Metabolic disorders
-Thalassemia
(An inherited blood disorder causing anemia)
-Sickle cell disease
What are the risks involved with CVS? - ANSWER: -Risk of fetal loss associated with CVS is .5%-1.0%
-Some association with limb reduction defects when performed before 8 weeks.
(Due to leak/decrease in amniotic fluid volume)
-RhoGAM should be administered to Rh-negative unsensitized women to prevent any problems with
future pregnancies
What are the advantages of CVS? - ANSWER: -Is an alternative test used to obtain a fetal karyotype,
similar to amniocentesis.
-Performed early in pregnancy (10-12 wks)
-Results are available within 1 week
-Earlier test results allow more options for parents
What is the removal of amniotic fluid from the gestational sac? - ANSWER: Amniocentesis
Why would you perform an Amnio? - ANSWER: -Relieve polyhydramnios
-Predict Rh isoimumunization
-Document fetal lung maturity
-Study fetal cells from amniotic fluid
When is an Amnio performed? - ANSWER: In the 2nd tri (b/w 15-18 weeks)
-genetic reasons
Can you do an amnio as early as 12 weeks? - ANSWER: Yes. but there is a risk of scoliosis or clubfoot
due to reduced amniotic fluid
Results of amnio are usually done within 1 to 3 weeks. If rapid results are desired, FISH can provide an
analysis within 24 hours for the most common chromosomal anomalies. What does FISH stand for? -
ANSWER: Fluorescence in situ hybridization
Who is an amnio offered to? - ANSWER: -Patients at risk for chromosomal abnormality or biochemical
disorder
-AMA is a common reason
-Abnormal AFP on quad screen
-Previous fetus with known congenital abnormality
What is ultrasounds role in an amnio? - ANSWER: -ultrasound guidance during this procedure to
insure the safety of mother and fetus
-Should be done away from the fetus, central portion of placenta, umbilical cord, and near maternal
midline to avoid vessels
-Should include fetal survey to exclude anomalies, targeting areas where anomalies are commonly
seen
-It is very important to avoid the placenta in patients who are Rh Negative, as this can often allow for
the mixing of maternal and fetal blood
-After procedure, document fetal cardiac activity and well being